ClinVar Miner

Submissions for variant NM_001130823.3(DNMT1):c.2472G>A (p.Thr824=) (rs45484792)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000434053 SCV000708029 likely benign not specified 2017-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000434053 SCV000522862 likely benign not specified 2017-12-12 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000350017 SCV000410229 likely benign Dementia, Deafness, and Sensory Neuropathy 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000528144 SCV000651292 likely benign Hereditary sensory neuropathy type IE 2017-12-27 criteria provided, single submitter clinical testing

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